ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232484198G>A , CM000664.2:g.232484198G>A | GRCh38 |
| NC_000002.11:g.233348908G>A , CM000664.1:g.233348908G>A | GRCh37 |
| NC_000002.10:g.233057152G>A | NCBI36 |
| NG_034065.1:g.8662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.1210C>T MANE Select | ENSP00000302051.1:p.Arg404Cys | |
| ENST00000304546.5:c.1210C>T | ENSP00000302051.1:p.Arg404Cys | |
| ENST00000409941.1:c.1210C>T | ENSP00000386333.1:p.Arg404Cys | |
| ENST00000482346.1:n.1521C>T | ||
| NM_001290787.1:c.1210C>T | NP_001277716.1:p.Arg404Cys | |
| NM_004826.3:c.1210C>T | NP_004817.2:p.Arg404Cys | |
| NM_004826.4:c.1210C>T MANE Select | NP_004817.2:p.Arg404Cys | |
| NM_001290787.2:c.1210C>T | NP_001277716.1:p.Arg404Cys |